Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs527656756
MTA3 ; HAAO
0.716 0.400 2 42770143 frameshift variant -/A delins 1.7E-05 1.4E-05 21
rs1553154130
RERE
0.807 0.280 1 8358231 missense variant T/A;C snv 18
rs1135401744
KYNU
0.776 0.120 2 142918608 splice acceptor variant G/T snv 1.4E-04 14